"My Body Was Shutting Down and Nobody Knew Why"

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Aug 8, 2014

Courtesy of Jennifer Skiver

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The Symptoms

Jennifer Skiver had always gotten colds easily, but it wasn't until she was 35 years old and trying unsuccessfully to get pregnant with her first child that she started to suspect something was off about her body.

When she had tests done, doctors discovered that her levels of progesterone — a hormone required for pregnancy — were zero.

"That was the first indication that I might have endocrine issues," she recalls, "but no major red flags."

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With the aid of synthetic hormones and in-vitro fertilization, Skiver, now 41, was able to get pregnant — and suddenly, she felt better than she ever had in her life.

But the feeling vanished after she gave birth to a healthy boy, now 5. After a year, she conceived naturally and had another healthy son. Everything seemed fine — tiring, but fine.

After two years, however, "the feeling of newborn exhaustion never faded," she remembers, describing it as combination of "a hangover and when you think you might be getting the flu."

Not only did the awful feeling fail to go away, it actually began to intensify. Around that time, she got a new job in a very high-stress environment — as a consultant in professional legal services at a top law firm in Orange County, California.

Within three months of starting work, a bizarre new symptom developed: uncontrollable outbreaks of mouth sores — up to 14 at a time, all the way inside her mouth and down her throat. She also felt that her stamina and memory were weakening.

In addition, "any little sickness the kids brought with them, I would get it."

Doctors at first thought she might have post-partum issues or a virus, but a biopsy of her sores by a leading oral pathologist proved otherwise. She wasn't suffering from a psychological disorder or a foreign invader.

In fact, the culprit was as astonishing as it was logical: Her own body.

The Diagnosis

"It was my own immune system firing," she says, "or misfiring, as it were."

She was referred to a primary immunologist at the University of California-Irvine, Dr. Sudhir Gupta, who ran a panel of tests to gauge the competency of her primary immune system.

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Normally, everyone is born with primary immunity, your first line of defense against illness. Over time, your body makes antibodies to protect you, which comprises your secondary immune system. This one kicks in if your primary system fails.

To test Skiver, Dr. Gupta needed to figure out if her primary immune system was properly making new antibodies. So first he tested her blood, then injected her with a vaccine she'd never had before — the pneumococcal vaccine that fights strep — and then tested her blood again. A normal immune system will make 11 antibodies to protect against this bacteria. Hers only made 4.

"She is defective in making a good quality of antibodies," says Dr. Gupta. Skiver's mucus membranes are particularly affected — nasal cavities, the lining of the mouth and throat, the vaginal area, the digestive tract.

"I don't have protection once anything gets through," she says. Hence her frequent colds and her mouth sores. (Her lack of fertility hormones was apparently unrelated, according to Dr. Gupta.)

Her condition falls under a category called primary immunodeficiency diseases (PIDD), of which there are more than 200 forms. According to the National Institutes of Health, they affect around 500,000 people in the United States — almost as common as multiple sclerosis. Yet only half have been diagnosed.

"Sometimes if they don't have infections, they may not look as sick and so the diagnosis is often missed," Dr. Gupta says. "Education becomes a very important part, both in the general for community and for physicians who are not immunologists."

Some people are born with it, while others acquire it as adults. Skiver doesn't know which is true in her own case. If it's treated by age 3, it can be reversed, but not later in life. Sadly, many adults suffer as long as 10 years before getting properly diagnosed, since the disease mimics others like Crohn's, IBS, and lupus. But after many years, they find themselves far down the path of autoimmune activation, with a multitude of difficult symptoms to manage.

"I'm not so far along," Skiver says. "I was super lucky to get diagnosed."

She also wonders whether the high amount of hormone in her fertility treatment five years ago "flipped the switch" to cause her vulnerable immune system to become full-on deficient.

"There's no data," she acknowledges, given that fertility treatments are only about a generation old. "But it's a question the doctors have raised."

The Treatment

Initially after her diagnosis, she went every few weeks to the UCI infusion center to receive a four-hour injection of what was, in essence, other people's healthy immune systems. The antibodies she lacked were collected from 60,000 people's cells and spun down into a liquid that could be absorbed by her body (and those of patients like her).

Unfortunately, the side effects of the treatment proved more debilitating than the disease itself. She ended up in the hospital for a week with aseptic meningitis, a non-infectious condition in which the layers lining the brain become inflamed.

"I was in a serious amount of pain," she recalls. Along with intense migraines, she suffered extreme stiffness in her neck and back, which she is still slowly recovering from three years later. She wore pain patches for eight months and still goes to physical therapy three times a week.

In March 2013, she left her job to focus on her health and hasn't been back since. Last October, she was approved by her insurance to give herself a new subcutaneous infusion called Hizentra instead of going to the UCI center.

Once a week, she sticks herself with four needles in her stomach or leg. The side effects, she says, are very manageable — just some tiredness. She and her husband have hired a nanny three days a week to help with her boys, so she isn't too taxed.

About 40 to 60 percent of the time, she still suffers from pain and muscle stiffness, infections, headaches, IBS activity, and stomach upset. There's no long-term cure; she just has to manage her symptoms. But at least, she notes, "none of them are progressing. They're in freeze mode."

A critical aspect of keeping herself healthy is having doctors who embrace a holistic approach to care and are not just focused on medicinal interventions. Dr. Gupta, for example, encourages her to take turmeric for its known positive effects on the immune system.

But one of the hardest parts is the psychological toll of managing her new normal. "I was super insecure about all this happening," she confesses. "There's an element of isolation and self-doubt, and lately it's taken more of my attention to get my confidence back."

Happily she has a rock-solid support system in her husband, parents, kids, and doctors. Her voice brightens when she realizes how much she's bounced back since her weakest days.

"There was a time when I couldn't get out of bed to take my kids to the park to push them on the swings," she says. "Now I can. Not every day — but I can."